PMID: 8592337Nov 1, 1995Paper

Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder

Journal of Medical Genetics
L B HolmesT Collins

Abstract

Absence or hypoplasia of the tibia has been reported to occur as an isolated hereditary malformation as well as a feature of several autosomal recessive and autosomal dominant syndromes. We report three sibs with absence or hypoplasia of the tibia in association with other malformations whose parents are first cousins once removed. These infants appear to have a "new" autosomal recessive syndrome.

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Citations

Jul 27, 2002·Brain & Development·Hiroko SuzukiYoichi Kohno
Mar 26, 2009·Clinical Dysmorphology·Arie KoifmanDavid Chitayat
Nov 13, 2012·Journal of Neurosurgery·Wajd N Al-HolouCormac O Maher
Jun 17, 2009·American Journal of Medical Genetics. Part a·Muhammad SubhaniGolder N Wilson
May 11, 2011·American Journal of Medical Genetics. Part a·Nina B GoldLewis B Holmes
Apr 26, 2001·Journal of Theoretical Biology·C Hayes
Nov 24, 2017·American Journal of Medical Genetics. Part a·Tanya BedardGerhard N Kiefer
Aug 21, 2007·American Journal of Medical Genetics. Part a·Jane A Evans
Jan 30, 2018·Birth Defects Research·M Hassan ToufailyLewis B Holmes
Aug 21, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·Joan Marilyn Stoler
Dec 31, 2016·World Journal of Clinical Cases·Guinevere GraniteRonald Wade

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